Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000194990 | SCV000247214 | benign | not specified | 2017-05-30 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000194990 | SCV000512899 | likely benign | not specified | 2017-12-13 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Invitae | RCV001083329 | SCV000559813 | benign | Charcot-Marie-Tooth disease, axonal, type 2O | 2019-12-31 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000720802 | SCV000851686 | likely benign | History of neurodevelopmental disorder | 2017-05-22 | criteria provided, single submitter | clinical testing | Synonymous alterations with insufficient evidence to classify as benign |
Center for Genomics, |
RCV000768205 | SCV000898656 | uncertain significance | Spinal muscular atrophy, lower extremity predominant 1, autosomal dominant; Charcot-Marie-Tooth disease, axonal, type 2O; Mental retardation, autosomal dominant 13 | 2017-10-23 | criteria provided, single submitter | clinical testing | DYNC1H1 NM_001376.4 exon 30 p.Ala1995= (c.5985C>T): This variant has not been reported in the literature but is present in 103/126648 European alleles, including 1 homozygote in the Genome Aggregation Database (http://gnomad.broadinstitute.org/rs140841480). This variant is present in ClinVar (Variation ID:210873). Evolutionary conservation and computational predictive tools for this variant are limited or unavailable. Of note, this variant is a silent variant and does not change the amino acid, reducing the probability that this variant is disease causing. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain. |
Ce |
RCV000470101 | SCV001149332 | uncertain significance | not provided | 2016-04-01 | criteria provided, single submitter | clinical testing | |
Illumina Clinical Services Laboratory, |
RCV001083329 | SCV001267953 | likely benign | Charcot-Marie-Tooth disease, axonal, type 2O | 2018-01-12 | criteria provided, single submitter | clinical testing | This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease. |
Illumina Clinical Services Laboratory, |
RCV001110505 | SCV001267954 | likely benign | Autosomal dominant cerebellar ataxia | 2018-01-12 | criteria provided, single submitter | clinical testing | This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease. |
Molecular Genetics Laboratory, |
RCV001172871 | SCV001335944 | likely benign | Charcot-Marie-Tooth disease | criteria provided, single submitter | clinical testing |